Incidental Mutation 'R5311:Rimbp3'
ID 404866
Institutional Source Beutler Lab
Gene Symbol Rimbp3
Ensembl Gene ENSMUSG00000071636
Gene Name RIMS binding protein 3
Synonyms LOC239731, LOC385766, RIM-BP3
MMRRC Submission 042894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R5311 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 17026467-17031846 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17028708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 711 (T711A)
Ref Sequence ENSEMBL: ENSMUSP00000127909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169803]
AlphaFold Q3V0F0
Predicted Effect probably benign
Transcript: ENSMUST00000169803
AA Change: T711A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: T711A

DomainStartEndE-ValueType
coiled coil region 25 56 N/A INTRINSIC
coiled coil region 84 145 N/A INTRINSIC
low complexity region 308 324 N/A INTRINSIC
coiled coil region 395 431 N/A INTRINSIC
coiled coil region 547 610 N/A INTRINSIC
low complexity region 688 701 N/A INTRINSIC
low complexity region 769 780 N/A INTRINSIC
SH3 825 888 7.58e-8 SMART
low complexity region 913 924 N/A INTRINSIC
FN3 980 1052 2.21e-3 SMART
FN3 1073 1160 1.91e1 SMART
low complexity region 1236 1243 N/A INTRINSIC
SH3 1423 1487 5.08e-2 SMART
SH3 1539 1602 5.97e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179034
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a null mutation display infertility with impaired spermiogenesis and defects in sperm head and flagellum morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 A G 5: 142,453,442 (GRCm39) K137E possibly damaging Het
Atm A C 9: 53,429,923 (GRCm39) V371G probably benign Het
Cacna2d3 A G 14: 29,068,987 (GRCm39) Y247H probably damaging Het
Ccdc180 T C 4: 45,917,556 (GRCm39) V927A probably damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Edar G A 10: 58,443,257 (GRCm39) P290S possibly damaging Het
Ext2 T C 2: 93,526,606 (GRCm39) I677V probably benign Het
Fam53a A G 5: 33,765,080 (GRCm39) S209P probably damaging Het
Fshr A T 17: 89,318,441 (GRCm39) probably null Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gm14295 A T 2: 176,502,465 (GRCm39) I652L probably benign Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Gm5431 T A 11: 48,779,716 (GRCm39) E402V probably damaging Het
Gm6899 GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC GGAGGCCGCCCAGTGGCAGAGGC 11: 26,543,725 (GRCm39) probably null Het
Itih2 T C 2: 10,115,346 (GRCm39) D342G probably benign Het
Lgi2 A T 5: 52,711,827 (GRCm39) D164E probably damaging Het
Lrriq1 A G 10: 103,050,448 (GRCm39) I768T probably damaging Het
Map1a C A 2: 121,132,868 (GRCm39) A990E probably damaging Het
Mdh1b A G 1: 63,759,163 (GRCm39) V143A probably benign Het
Mrgprb3 C T 7: 48,293,059 (GRCm39) C164Y probably damaging Het
Mtpap T A 18: 4,386,328 (GRCm39) V316E probably damaging Het
Mybpc3 T A 2: 90,959,023 (GRCm39) C655* probably null Het
Myh15 A G 16: 48,986,204 (GRCm39) E1558G possibly damaging Het
Mylk A G 16: 34,742,127 (GRCm39) T880A probably benign Het
Nckap1 T A 2: 80,370,466 (GRCm39) D408V probably damaging Het
Nos3 A T 5: 24,582,343 (GRCm39) H605L probably benign Het
Nrxn2 C A 19: 6,581,428 (GRCm39) D411E probably benign Het
Or1af1 T C 2: 37,109,633 (GRCm39) V44A probably benign Het
Or8j3b T A 2: 86,205,094 (GRCm39) I221L possibly damaging Het
Pde4d C A 13: 109,769,398 (GRCm39) P29T probably benign Het
Pde4d C T 13: 109,769,399 (GRCm39) P29L probably benign Het
Pkhd1 A G 1: 20,636,094 (GRCm39) V412A possibly damaging Het
Rev1 T A 1: 38,118,474 (GRCm39) I480L probably benign Het
RP23-191E1.1 T A 3: 106,204,784 (GRCm39) noncoding transcript Het
Serpina11 A T 12: 103,952,221 (GRCm39) I183N probably damaging Het
Siglec1 T C 2: 130,921,236 (GRCm39) H645R probably damaging Het
Skint7 G A 4: 111,837,501 (GRCm39) R93H probably damaging Het
Slfn8 T C 11: 82,894,910 (GRCm39) E632G probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Trps1 G A 15: 50,528,156 (GRCm39) T658I probably damaging Het
Ubash3a A G 17: 31,438,691 (GRCm39) T287A probably damaging Het
Ugt2b35 G A 5: 87,159,139 (GRCm39) W444* probably null Het
Vmn1r219 T A 13: 23,347,063 (GRCm39) V84D probably damaging Het
Vmn2r10 T C 5: 109,154,121 (GRCm39) Y61C probably damaging Het
Vmn2r104 G A 17: 20,250,163 (GRCm39) P703S probably damaging Het
Wdsub1 T A 2: 59,708,873 (GRCm39) probably benign Het
Zfp667 A G 7: 6,308,715 (GRCm39) Q461R probably benign Het
Zfp941 C A 7: 140,391,872 (GRCm39) G496* probably null Het
Other mutations in Rimbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Rimbp3 APN 16 17,027,607 (GRCm39) missense probably benign 0.01
IGL00786:Rimbp3 APN 16 17,029,552 (GRCm39) missense probably damaging 0.99
IGL01411:Rimbp3 APN 16 17,028,958 (GRCm39) missense probably damaging 1.00
IGL01434:Rimbp3 APN 16 17,029,566 (GRCm39) missense probably benign 0.13
IGL01895:Rimbp3 APN 16 17,029,300 (GRCm39) missense probably damaging 0.99
IGL02322:Rimbp3 APN 16 17,029,479 (GRCm39) missense probably benign 0.00
IGL02649:Rimbp3 APN 16 17,027,472 (GRCm39) nonsense probably null
IGL03285:Rimbp3 APN 16 17,031,096 (GRCm39) missense probably benign 0.16
PIT4581001:Rimbp3 UTSW 16 17,028,580 (GRCm39) missense possibly damaging 0.76
R0279:Rimbp3 UTSW 16 17,027,317 (GRCm39) missense probably benign 0.00
R0465:Rimbp3 UTSW 16 17,029,644 (GRCm39) missense possibly damaging 0.86
R0605:Rimbp3 UTSW 16 17,029,563 (GRCm39) missense probably damaging 0.99
R0674:Rimbp3 UTSW 16 17,030,601 (GRCm39) missense probably benign 0.02
R1676:Rimbp3 UTSW 16 17,028,977 (GRCm39) missense probably benign 0.13
R1780:Rimbp3 UTSW 16 17,030,496 (GRCm39) missense probably benign
R1946:Rimbp3 UTSW 16 17,028,291 (GRCm39) missense probably benign 0.10
R2113:Rimbp3 UTSW 16 17,027,539 (GRCm39) missense probably benign 0.00
R3847:Rimbp3 UTSW 16 17,028,163 (GRCm39) missense probably benign 0.13
R3849:Rimbp3 UTSW 16 17,028,163 (GRCm39) missense probably benign 0.13
R3850:Rimbp3 UTSW 16 17,028,163 (GRCm39) missense probably benign 0.13
R4355:Rimbp3 UTSW 16 17,027,556 (GRCm39) missense possibly damaging 0.56
R4646:Rimbp3 UTSW 16 17,030,962 (GRCm39) missense probably damaging 0.99
R4669:Rimbp3 UTSW 16 17,027,053 (GRCm39) missense possibly damaging 0.88
R4732:Rimbp3 UTSW 16 17,028,465 (GRCm39) missense possibly damaging 0.94
R4733:Rimbp3 UTSW 16 17,028,465 (GRCm39) missense possibly damaging 0.94
R5025:Rimbp3 UTSW 16 17,027,671 (GRCm39) missense probably damaging 0.99
R5039:Rimbp3 UTSW 16 17,031,195 (GRCm39) missense probably damaging 0.99
R5177:Rimbp3 UTSW 16 17,027,781 (GRCm39) missense possibly damaging 0.85
R5942:Rimbp3 UTSW 16 17,029,752 (GRCm39) missense probably benign 0.00
R6063:Rimbp3 UTSW 16 17,028,781 (GRCm39) missense probably damaging 1.00
R6092:Rimbp3 UTSW 16 17,030,134 (GRCm39) missense probably damaging 1.00
R6126:Rimbp3 UTSW 16 17,030,140 (GRCm39) missense probably benign 0.25
R6288:Rimbp3 UTSW 16 17,030,772 (GRCm39) missense probably benign 0.22
R6446:Rimbp3 UTSW 16 17,030,793 (GRCm39) missense probably benign 0.00
R6773:Rimbp3 UTSW 16 17,026,879 (GRCm39) missense probably damaging 1.00
R7017:Rimbp3 UTSW 16 17,027,610 (GRCm39) missense probably benign 0.04
R7043:Rimbp3 UTSW 16 17,028,972 (GRCm39) missense probably damaging 1.00
R7048:Rimbp3 UTSW 16 17,028,190 (GRCm39) missense probably benign 0.20
R7378:Rimbp3 UTSW 16 17,029,068 (GRCm39) missense probably benign
R7440:Rimbp3 UTSW 16 17,031,065 (GRCm39) missense possibly damaging 0.78
R7788:Rimbp3 UTSW 16 17,030,568 (GRCm39) missense probably benign 0.00
R7879:Rimbp3 UTSW 16 17,028,910 (GRCm39) missense possibly damaging 0.71
R8071:Rimbp3 UTSW 16 17,028,727 (GRCm39) missense probably benign
R8272:Rimbp3 UTSW 16 17,026,969 (GRCm39) missense possibly damaging 0.85
R8419:Rimbp3 UTSW 16 17,030,886 (GRCm39) missense probably damaging 0.97
R8819:Rimbp3 UTSW 16 17,028,771 (GRCm39) missense probably benign 0.17
R8830:Rimbp3 UTSW 16 17,026,870 (GRCm39) missense probably damaging 0.98
R8936:Rimbp3 UTSW 16 17,030,884 (GRCm39) missense probably benign
R8982:Rimbp3 UTSW 16 17,027,511 (GRCm39) missense probably benign 0.11
R9365:Rimbp3 UTSW 16 17,026,620 (GRCm39) missense possibly damaging 0.93
R9799:Rimbp3 UTSW 16 17,027,641 (GRCm39) missense possibly damaging 0.88
Z1176:Rimbp3 UTSW 16 17,027,338 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AACTCGAAGCCACTAGCCTG -3'
(R):5'- CCACATGGACTCTACCTCTGAG -3'

Sequencing Primer
(F):5'- CTGCTGCAACAAGAGGGATATGC -3'
(R):5'- CTCTGAGGAGGAATTTGACTGTGAAC -3'
Posted On 2016-07-22